I’m a real sucker for animal videos on YouTube and came across this edited version of an earlier post which I had enjoyed a lot. The new one added a very lovely musical background and several captions. (Cllick “Read More” if the video isn’t visible yet.)
I have to ask about one caption, though, “What is ‘God doesn’t make mistakes’ supposed to mean?” It’s one thing when a little girl says “God didn’t make a mistake when he made me” (the source of the caption). Her parents gave her a way of forestalling those who would look down on her or who would criticize their choice to cherish her.
I understand it is used to celebrate the value of lives affected by genetic anomalies. But, please!! I dare to object because (1) it implies that God directs the creation of every individual life (otherwise the results could hardly be considered by anyone as a mistake made by God) and (2) to be consistent, the same would have to apply to all children born, regardless of degree of malformation. If you have ever been to a human genetics conference and perused the poster session (thousands of posters), you will appreciate that Down Syndrome is relatively speaking, a very mild condition. The quality of life is marvelous in comparison with many infants who survive far more devastating genetic defects (one definition of “defect” being “mistake,” I suppose). In such cases, it is a whole lot harder to buy the idea that there were no errors (mistakes) involved in that individual’s development. Seeing the more extreme cases helps one appreciate that at what point some might decide to terminate is indeed relative and a difficult personal decision. The infants that survive many genetic problems are exceptions in that in the majority of similar cases, “nature (God?) takes its course” and spontaneous, natural abortions occur. Perhaps in recognition that a mistake had occurred?
Yes, the bond between the child and his dog is incredible and very touching. It enriches life to focus on the emotional wealth that humans (and animals) can have that makes life worth living in the face of intellectual challenges and unusual appearances. That certainly does not mean that each embryo is the result of some divine plan (Is it God that prompts people to have sex on any particular occasion?). To suggest that diminished the video for me, needlessly and pointlessly.
Most breast cancer is not hereditary. Available estimates say that genetic susceptibility (among white women) is involved in 5 to 10% of breast malignancies and 10 to 15% of ovarian cancers (BRCA mutations can cause either).
We all possess wonderful genes called tumor suppressors. Two of the genes known to suppress breast and ovarian cancer tumors are called BRCA1 and BRCA2. BRCA (pronounced brack’ uh) stands for BReast CAncer. Normally, we have two healthy copies of each tumor suppressor gene. When a mutation, or change, occurs causing one gene to work incorrectly, the cell can still continue to suppress abnormal growth UNTIL something breaks the second gene as well. When both genes of a pair are damaged, the gene can no longer work its tumor suppressing magic and cancer can result. So when one inherits a BRCA gene with a harmful mutation, it means there is just one gene, instead of a pair, standing guard, resisting tumor-generating forces. One’s risk of breast cancer is then higher than that of the general population. It could be as much as five times higher, 60% instead of 12%, although this might be an overestimate. (Source: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA#a2)
It is important to appreciate that not all children of an adult with a BRCA1 or BRCA2 mutation will inherit the damaged gene instead of the healthy one. Genetic counselors can help various family members estimate the risk they face. Naturally, those who have experienced the disease, or survivors who knew relatives who were killed by it, feel great concern for relatives that may face increased risk. However, knowledge of risk is something not everyone desires. Perception of the burden of having breast or ovarian cancer varies also.
But what about minor children? For many years, most genetics professionals have counseled against genetic testing of children to determine either carrier status or genetic susceptibility. Personally, I am convinced that it is not the test or test results themselves that can be harmful to children. Rather, it is the meaning given those results by the adults with influence over the children. Even mature teenagers are vulnerable to being overwhelmed by their parents’ interpretation of test results. Parents and others must have the fortitude to override their worry and concern in order to respect family member’s autonomy and right to make their own decisions in the wake of genetic knowledge, regardless of their age or attitude.
This autumn [2010] sees the start of the screening of Division 1 student athletes for “sickle cell trait,” as mandated by the National Collegiate Athletic Association. From 2000 to 2009, seven college football players who were genetic carriers of sickle cell anemia have died during extreme workouts (see http://web1.ncaa.org/web_files/health_safety/SickleCellTraitforCoaches.pdf where the workouts are referred to as “conditioning activities”).
These student athletes did not have sickle cell anemia. A person must have two matching genes, both coding for altered hemoglobin, to have the disease. Having only one such gene, the students who died were not afflicted with sickle cell disease.
The Facts:
“Sickle cell trait” is not a disease. It is an unusual case of a label being applied to the situation of having one abnormal allele when two are needed to have the genetic disorder involved.
Is it likely that this unusual terminology would be applied to persons with one sickle cell gene if they were primarily Caucasians, rather than Blacks?
The only similar case is that of “thalassemia trait” (or “thalassemia minor”). Thalassemia is also a blood disorder which, like sickle cell anemia, mainly affects populations frequently stigmatized—in this case persons from the Mediterranean area.
o In the 1920s, the restriction of immigration from Southern European nations such as Greece and Italy was spurred on by fears of pollution of the American gene pool.
o In 1924 Harry Laughlin of the Eugenics Record Office presented testimony to the U.S. House of Representatives Committee on Immigration and Naturalization regarding the “intellectually and morally defective immigrants primarily from eastern and southern Europe,” illustrating his commentary with a photo of an Italian mother and daughter (Lombardo, P. (n.d.). Eugenic laws restricting immigration. http://www.eugenicsarchive.org/eugenics/list2.pl, p. 6).
My Hypothesis:
I suspect that sickle cell and thalassemia are the only instances of labeling the carrier state with unique terminology.
A search of PubMed at http://www.ncbi.nlm.nih.gov/pubmed for the term “trait” recommended “Also Try sickle cell trait and thalassemia trait” but no others.
So What?
Discrimination on the basis of one’s genetic make-up is a realistic concern and can extend even to whether the carrier state is pathologized, labeled, and referred to as a health “condition.”
Significantly, student athletes may sign a waiver releasing NCAA and their university from liability instead of being tested for sickle cell “trait.”
The implications of this are discussed in an article that appeared in the September 9, 2010, issue of the New England Journal of Medicine, 363 (11). It examines the decision to screen student athletes for “sickle cell trait.” The lead author, Vence L. Bonham, J.D., is an Associate Investigator of the Social and Behavioral Research Branch of the National Human Genome Research Institute.
As the NEJM article points out
o the waiver alternative hints that reducing legal liability is NCAA’s main goal.
o the testing program is essentially an experiment for which it is impossible to grant voluntary consent because students need athletic scholarships which depend on maximal performance and cooperation.
o the entire testing initiative would be rendered unnecessary were the eminently reasonable recommendations for sickle cell anemia carriers during conditioning sessions extended to all athletes.
disability rights, Down Syndrome | admin, 6 Jan 13 | 
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